{
  "url": "https://dantelabs.com/fr/genes/rpia",
  "gene": {
    "slug": "rpia",
    "symbol": "RPIA",
    "name": "ribose 5-phosphate isomerase A",
    "hgnc": "HGNC:10297",
    "summary": null,
    "location": "2p11.2",
    "locusType": "gene with protein product",
    "aliases": [],
    "previousSymbols": [],
    "ensemblId": "ENSG00000153574",
    "entrezId": 22934,
    "omim": [
      "180430"
    ],
    "uniprot": [
      "P49247"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "2",
      "start": 88691673,
      "end": 88750929,
      "strand": "+",
      "ensemblTranscript": "ENST00000283646.5",
      "refseqTranscript": "NM_144563.3",
      "ensemblProtein": "ENSP00000283646.3",
      "refseqProtein": "NP_653164.2",
      "exons": [
        {
          "start": 88691673,
          "end": 88691983
        },
        {
          "start": 88698484,
          "end": 88698544
        },
        {
          "start": 88700009,
          "end": 88700064
        },
        {
          "start": 88729278,
          "end": 88729337
        },
        {
          "start": 88734552,
          "end": 88734616
        },
        {
          "start": 88735669,
          "end": 88735737
        },
        {
          "start": 88736535,
          "end": 88736676
        },
        {
          "start": 88737977,
          "end": 88738076
        },
        {
          "start": 88749981,
          "end": 88750929
        }
      ],
      "cds": {
        "start": 88691699,
        "end": 88750078
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "2",
      "start": 88991162,
      "end": 89050452,
      "strand": "+"
    },
    "neighbourhood": {
      "release": "116",
      "start": 88221301,
      "end": 89221300,
      "genes": [
        {
          "symbol": "FOXI3",
          "ensemblId": "ENSG00000214336",
          "biotype": "protein_coding",
          "start": 88444826,
          "end": 88452693,
          "strand": "-",
          "slug": "foxi3"
        },
        {
          "symbol": "SPMIP9",
          "ensemblId": "ENSG00000172073",
          "biotype": "protein_coding",
          "start": 88524619,
          "end": 88529591,
          "strand": "+",
          "slug": "spmip9"
        },
        {
          "symbol": "EIF2AK3",
          "ensemblId": "ENSG00000172071",
          "biotype": "protein_coding",
          "start": 88556741,
          "end": 88691518,
          "strand": "-",
          "slug": "eif2ak3"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "leukodystrophy",
        "name": "Autres leucodystrophies héréditaires",
        "diseases": [
          {
            "mondoId": "MONDO:0019046",
            "name": "Leucodystrophie (autres types et types non précisés)",
            "genes": 80,
            "inheritance": null,
            "description": "Maladies héréditaires qui altèrent ou empêchent la formation normale de la myéline, la substance blanche du cerveau et de la moelle épinière. Selon le gène concerné, les différents types suivent une hérédité autosomique récessive, autosomique dominante ou liée à l'X.",
            "management": "Connaître la cause génétique précise peut mettre fin à une recherche diagnostique, guider les soins de soutien et la surveillance, indiquer s'il existe un traitement spécifique et permettre le dépistage des apparentés.",
            "evidence": {
              "gencc": [
                "G2P",
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": true
          }
        ],
        "url": "https://dantelabs.com/fr/conditions/leukodystrophy"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "ataxia",
        "name": "Ataxia",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/ataxia"
      },
      {
        "slug": "decreased-csf-erythritol-concentration",
        "name": "Decreased CSF erythritol concentration",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/decreased-csf-erythritol-concentration"
      },
      {
        "slug": "decreased-level-of-erythritol-in-urine",
        "name": "Decreased level of erythritol in urine",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-genitourinary-system"
        ],
        "url": "https://dantelabs.com/traits/decreased-level-of-erythritol-in-urine"
      },
      {
        "slug": "dysarthria",
        "name": "Difficulty articulating speech",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/dysarthria"
      },
      {
        "slug": "elevated-brain-polyol-compounds-by-mrs",
        "name": "Elevated brain polyol compounds by MRS",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/elevated-brain-polyol-compounds-by-mrs"
      },
      {
        "slug": "elevated-circulating-d-threitol-concentration",
        "name": "Elevated circulating D-threitol concentration",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "url": "https://dantelabs.com/traits/elevated-circulating-d-threitol-concentration"
      },
      {
        "slug": "elevated-circulating-ribitol-concentration",
        "name": "Elevated circulating ribitol concentration",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/elevated-circulating-ribitol-concentration"
      },
      {
        "slug": "seizure",
        "name": "Epilepsy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/seizure"
      },
      {
        "slug": "global-developmental-delay",
        "name": "Global developmental delay",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/global-developmental-delay"
      },
      {
        "slug": "incoordination",
        "name": "Incoordination",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/incoordination"
      },
      {
        "slug": "increased-csf-d-threitol-concentration",
        "name": "Increased CSF D-threitol concentration",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/increased-csf-d-threitol-concentration"
      },
      {
        "slug": "increased-csf-ribitol-concentration",
        "name": "Increased CSF ribitol concentration",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/increased-csf-ribitol-concentration"
      },
      {
        "slug": "increased-csf-ribose-concentration",
        "name": "Increased CSF ribose concentration",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/increased-csf-ribose-concentration"
      },
      {
        "slug": "increased-csf-xylitol-concentration",
        "name": "Increased CSF xylitol concentration",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/increased-csf-xylitol-concentration"
      },
      {
        "slug": "increased-level-of-d-threitol-in-urine",
        "name": "Increased level of D-threitol in urine",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-genitourinary-system"
        ],
        "url": "https://dantelabs.com/traits/increased-level-of-d-threitol-in-urine"
      },
      {
        "slug": "increased-level-of-ribitol-in-urine",
        "name": "Increased level of ribitol in urine",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-genitourinary-system"
        ],
        "url": "https://dantelabs.com/traits/increased-level-of-ribitol-in-urine"
      },
      {
        "slug": "increased-level-of-ribose-in-urine",
        "name": "Increased level of ribose in urine",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-genitourinary-system"
        ],
        "url": "https://dantelabs.com/traits/increased-level-of-ribose-in-urine"
      },
      {
        "slug": "increased-level-of-xylitol-in-urine",
        "name": "Increased level of xylitol in urine",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-genitourinary-system"
        ],
        "url": "https://dantelabs.com/traits/increased-level-of-xylitol-in-urine"
      },
      {
        "slug": "spasticity",
        "name": "Involuntary muscle stiffness, contraction, or spasm",
        "systems": [
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/spasticity"
      },
      {
        "slug": "nystagmus",
        "name": "Involuntary, rapid, rhythmic eye movements",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "url": "https://dantelabs.com/traits/nystagmus"
      },
      {
        "slug": "leukoencephalopathy",
        "name": "Leukoencephalopathy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/leukoencephalopathy"
      },
      {
        "slug": "sensorimotor-neuropathy",
        "name": "Nerve damage causing decreased feeling and movement",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/sensorimotor-neuropathy"
      },
      {
        "slug": "optic-atrophy",
        "name": "Optic atrophy",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "url": "https://dantelabs.com/traits/optic-atrophy"
      },
      {
        "slug": "polyneuropathy",
        "name": "Peripheral nerve disease",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/polyneuropathy"
      }
    ],
    "related": [
      {
        "slug": "aars1",
        "symbol": "AARS1",
        "name": "alanyl-tRNA synthetase 1",
        "shared": 1,
        "url": "https://dantelabs.com/fr/genes/aars1"
      },
      {
        "slug": "aars2",
        "symbol": "AARS2",
        "name": "alanyl-tRNA synthetase 2, mitochondrial",
        "shared": 1,
        "url": "https://dantelabs.com/fr/genes/aars2"
      },
      {
        "slug": "abcd1",
        "symbol": "ABCD1",
        "name": "ATP binding cassette subfamily D member 1",
        "shared": 1,
        "url": "https://dantelabs.com/fr/genes/abcd1"
      },
      {
        "slug": "acer3",
        "symbol": "ACER3",
        "name": "alkaline ceramidase 3",
        "shared": 1,
        "url": "https://dantelabs.com/fr/genes/acer3"
      },
      {
        "slug": "adar",
        "symbol": "ADAR",
        "name": "adenosine deaminase RNA specific",
        "shared": 1,
        "url": "https://dantelabs.com/fr/genes/adar"
      },
      {
        "slug": "aimp1",
        "symbol": "AIMP1",
        "name": "aminoacyl tRNA synthetase complex interacting multifunctional protein 1",
        "shared": 1,
        "url": "https://dantelabs.com/fr/genes/aimp1"
      },
      {
        "slug": "aimp2",
        "symbol": "AIMP2",
        "name": "aminoacyl tRNA synthetase complex interacting multifunctional protein 2",
        "shared": 1,
        "url": "https://dantelabs.com/fr/genes/aimp2"
      },
      {
        "slug": "aldh3a2",
        "symbol": "ALDH3A2",
        "name": "aldehyde dehydrogenase 3 family member A2",
        "shared": 1,
        "url": "https://dantelabs.com/fr/genes/aldh3a2"
      },
      {
        "slug": "arsa",
        "symbol": "ARSA",
        "name": "arylsulfatase A",
        "shared": 1,
        "url": "https://dantelabs.com/fr/genes/arsa"
      },
      {
        "slug": "aspa",
        "symbol": "ASPA",
        "name": "aspartoacylase",
        "shared": 1,
        "url": "https://dantelabs.com/fr/genes/aspa"
      },
      {
        "slug": "atp11a",
        "symbol": "ATP11A",
        "name": "ATPase phospholipid transporting 11A",
        "shared": 1,
        "url": "https://dantelabs.com/fr/genes/atp11a"
      },
      {
        "slug": "clcn2",
        "symbol": "CLCN2",
        "name": "chloride voltage-gated channel 2",
        "shared": 1,
        "url": "https://dantelabs.com/fr/genes/clcn2"
      }
    ],
    "sources": {
      "bundleId": "2026.10.16-c6eea6bf",
      "panel": "2026-10-16",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}